Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearrangements account for about 5% of patients with LDL receptor gene mutations.
Department of Medicine and Cardiology, Aarhus Sygehus, Aarhus University Hospital, Tage Hansens Gade 2, 8000 Aarhus C, Denmark. dorte.damgaard@dadlnet.dk
